Variant position: 364 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1298 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VQTEPFHPPEQASSTQQDQG LLNRPSAFSTVQSSTAGNTLR
Mouse VQTEPFHPPEQASSTQQDQG LLNRPSAFSTVQSSTAGNTLR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1298 Activating molecule in BECN1-regulated autophagy protein 1
343 – 413 Disordered
343 – 389 Polar residues
Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defects.
Ye J.; Tong Y.; Lv J.; Peng R.; Chen S.; Kuang L.; Su K.; Zheng Y.; Zhang T.; Zhang F.; Jin L.; Yang X.; Wang H.;
Hum. Mutat. 41:1383-1393(2020)
Cited for: VARIANTS MET-80; PHE-364; PHE-833; VAL-974 AND PHE-1043; CHARACTERIZATION OF VARIANTS MET-80; PHE-364; PHE-833; VAL-974 AND PHE-1043; FUNCTION;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.